ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation

ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation

Adenosine deaminase 2 (ADA2) deficiency is an auto-inflammatory disease due to mutations in cat eye syndrome chromosome region candidate 1 (CECR1) gene, currently named ADA2. The disease has a wide clinical spectrum encompassing early-onset vasculopathy (targeting skin, gut and central nervous syste...

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Bibliographic Details
Main Authors: Federica Barzaghi, Federica Minniti, Margherita Mauro, Massimiliano De Bortoli, Rita Balter, Elisa Bonetti, Ada Zaccaron, Virginia Vitale, Maryam Omrani, Matteo Zoccolillo, Immacolata Brigida, Maria Pia Cicalese, Massimo Degano, Michael S. Hershfield, Alessandro Aiuti, Anastasiia V. Bondarenko, Matteo Chinello, Simone Cesaro
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-01-01
Series:Frontiers in Immunology
Subjects:
ADA2 deficiency
HSCT
ALPS
ADA2
CECR1
autoimmunity
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.02767/full

Internet

https://www.frontiersin.org/article/10.3389/fimmu.2018.02767/full

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